المؤلفون: Yoon, Jihoon G., Lim, Seong-Kyun, Seo, Hoseok, Lee, Seungbok, Cho, Jaeso, Kim, Soo Yeon, Koh, Hyun Yong, Poduri, Annapurna H., Ramakumaran, Vijayalakshmi, Vasudevan, Pradeep, de Groot, Martijn J., Ko, Jung Min, Han, Dohyun, Chae, Jong-Hee, Lee, Chul-Hwan

المساهمون: Ko, Jung Min, Chae, Jong-Hee, Lee, Chul-Hwan

مصطلحات موضوعية: HISTONE DEACETYLASE 3, COMPUTATIONAL PLATFORM, DEMETHYLASE ACTIVITY, COPY-NUMBER, HDAC3, GENE, TRANSCRIPTION, METABOLISM, MUTATIONS, SEQUENCE, cellular mislocalization, CoREST, epigenetics, exome sequencing, HDAC activity, NCoR, neurodevelopmental disorder, proteomics

Relation: American Journal of Human Genetics, Vol.111 No.8, pp.1588-1604; https://hdl.handle.net/10371/209120; 001302415000001; 2-s2.0-85200320981; 223885

الاتاحة: https://hdl.handle.net/10371/209120
https://doi.org/10.1016/j.ajhg.2024.06.015

المؤلفون: Cha, Ju Hyuen, Lee, Seok-Hoon, Yun, Yejin, Choi, Won Hoon, Koo, Hansol, Jung, Sung Ho, Chae, Ho Byung, Lee, Dae Hee, Lee, Seok Jae, Jo, Dong Hyun, Kim, Jeong Hun, Song, Jae-Jin, Chae, Jong-Hee, Lee, Jun Ho, Park, Jiho, Kang, Jin Young, Bae, Sangsu, Lee, Sang-Yeon

المساهمون: Jo, Dong Hyun, Chae, Jong-Hee, Bae, Sangsu

مصطلحات موضوعية: MOBILITY SHIFT ASSAY, GENOMIC DNA, REPLICATION, PROTEIN, MODEL, editing efficacy, mitochondrial diseases, MT: RNA/ DNA editing, myopathy, NG-ABE8e, NG-ABE8eWQ, NG-Cas9-based ABE8e, NG-Cas9-based ABE8eWQ, off-target effects, optic atrophy, sensorineural deafness, single-stranded binding protein 1, SSBP1

Relation: Molecular Therapy - Nucleic Acids, Vol.35 No.3, p. 102257; https://hdl.handle.net/10371/204922; 001267582500001; 2-s2.0-85198320963; 220919

الاتاحة: https://hdl.handle.net/10371/204922
https://doi.org/10.1016/j.omtn.2024.102257

المؤلفون: Kalm, Tassja, Schob, Claudia, Völler, Hanna, Gardeitchik, Thatjana, Gilissen, Christian, Pfundt, Rolph, Klöckner, Chiara, Platzer, Konrad, Klabunde-Cherwon, Annick, Ries, Markus, Syrbe, Steffen, Beccaria, Francesca, Madia, Francesca, Scala, Marcello, Zara, Federico, Hofstede, Floris, Simon, Marleen E H, van Jaarsveld, Richard H, Oegema, Renske, van Gassen, Koen L I, Holwerda, Sjoerd J B, Barakat, Tahsin Stefan, Bouman, Arjan, van Slegtenhorst, Marjon, Álvarez, Sara, Fernández-Jaén, Alberto, Porta, Javier, Accogli, Andrea, Mancardi, Margherita Maria, Striano, Pasquale, Iacomino, Michele, Chae, Jong-Hee, Jang, SeSong, Kim, Soo Y, Chitayat, David, Mercimek-Andrews, Saadet, Depienne, Christel, Kampmeier, Antje, Kuechler, Alma, Surowy, Harald, Bertini, Enrico Silvio, Radio, Francesca Clementina, Mancini, Cecilia, Pizzi, Simone, Tartaglia, Marco, Gauthier, Lucas, Genevieve, David, Tharreau, Mylène, Azoulay, Noy, Zaks-Hoffer, Gal, Gilad, Nesia K, Orenstein, Naama, Bernard, Geneviève, Thiffault, Isabelle, Denecke, Jonas, Herget, Theresia, Kortüm, Fanny, Kubisch, Christian, Bähring, Robert, Kindler, Stefan

المساهمون: Integrale & Alg. Kindergen Patientenzorg, Child Health, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Brain

مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, Epilepsy/genetics, Exome Sequencing, Female, Genetic Diseases, X-Linked/genetics, Heterozygote, Humans, Infant, Male, Mutation, Missense/genetics, Neurodevelopmental Disorders/genetics, Pedigree, Phenotype, Shal Potassium Channels/genetics, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/453547

الاتاحة: https://dspace.library.uu.nl/handle/1874/453547

المؤلفون: Stegmann, Jil D, Kalanithy, Jeshurun C, Dworschak, Gabriel C, Ishorst, Nina, Mingardo, Enrico, Lopes, Filipa M, Ho, Yee Mang, Grote, Phillip, Lindenberg, Tobias T, Yilmaz, Öznur, Channab, Khadija, Seltzsam, Steve, Shril, Shirlee, Hildebrandt, Friedhelm, Boschann, Felix, Heinen, André, Jolly, Angad, Myers, Katherine, McBride, Kim, Bekheirnia, Mir Reza, Bekheirnia, Nasim, Scala, Marcello, Morleo, Manuela, Nigro, Vincenzo, Torella, Annalaura, Pinelli, Michele, Capra, Valeria, Accogli, Andrea, Maitz, Silvia, Spano, Alice, Olson, Rory J, Klee, Eric W, Lanpher, Brendan C, Jang, Se Song, Chae, Jong-Hee, Steinbauer, Philipp, Rieder, Dietmar, Janecke, Andreas R, Vodopiutz, Julia, Vogel, Ida, Blechingberg, Jenny, Cohen, Jennifer L, Riley, Kacie, Klee, Victoria, Walsh, Laurence E, Begemann, Matthias, Elbracht, Miriam, Eggermann, Thomas, Stuurman, Kyra, van Slegtenhorst, Marjon

المصدر: Stegmann , J D , Kalanithy , J C , Dworschak , G C , TUDP consortium , Ishorst , N , Mingardo , E , Lopes , F M , Ho , Y M , Grote , P , Lindenberg , T T , Yilmaz , Ö , Channab , K , Seltzsam , S , Shril , S , Hildebrandt , F , Boschann , F , Heinen , A , Jolly , A , Myers , K , McBride , K , Bekheirnia , M R , Bekheirnia , N , Scala , M , Morleo ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/9da6fe48-84bb-49b0-9137-de45838f8c14
https://doi.org/10.1038/s41525-024-00398-9
https://pure.eur.nl/ws/files/137962317/s41525-024-00398-9.pdf
http://www.scopus.com/inward/record.url?scp=85186632646&partnerID=8YFLogxK

المؤلفون: Accogli, Andrea, Shakya, Saurabh, Yang, Taewoo, Insinna, Christine, Kim, Soo Yeon, Bell, David, Butov, Kirill R, Severino, Mariasavina, Niceta, Marcello, Scala, Marcello, Lee, Hyun Sik, Yoo, Taekyeong, Stauffer, Jimmy, Zhao, Huijie, Fiorillo, Chiara, Pedemonte, Marina, Diana, Maria C, Baldassari, Simona, Zakharova, Viktoria, Shcherbina, Anna, Rodina, Yulia, Fagerberg, Christina, Roos, Laura Sønderberg, Wierzba, Jolanta, Dobosz, Artur, Gerard, Amanda, Potocki, Lorraine, Rosenfeld, Jill A, Lalani, Seema R, Scott, Tiana M, Scott, Daryl, Azamian, Mahshid S, Louie, Raymond, Moore, Hannah W, Champaigne, Neena L, Hollingsworth, Grace, Torella, Annalaura, Nigro, Vincenzo, Ploski, Rafal, Salpietro, Vincenzo, Zara, Federico, Pizzi, Simone, Chillemi, Giovanni, Ognibene, Marzia, Cooney, Erin, Do, Jenny, Linnemann, Anders, Larsen, Martin J, Specht, Suzanne, Walters, Kylie J, Choi, Hee-Jung, Choi, Murim, Tartaglia, Marco, Youkharibache, Phillippe, Chae, Jong-Hee, Capra, Valeria, Park, Sung-Gyoo, Westlake, Christopher J

المصدر: Accogli , A , Shakya , S , Yang , T , Insinna , C , Kim , S Y , Bell , D , Butov , K R , Severino , M , Niceta , M , Scala , M , Lee , H S , Yoo , T , Stauffer , J , Zhao , H , Fiorillo , C , Pedemonte , M , Diana , M C , Baldassari , S , Zakharova , V , Shcherbina , A , Rodina , Y , Fagerberg , C , Roos , L S , Wierzba , ....

مصطلحات موضوعية: Humans, Male, Animals, WD40 Repeats, Zebrafish/genetics, Cognition, Brain, Ciliopathies/genetics

وصف الملف: application/pdf

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/50fc8ec8-531a-41d8-afff-9a39563c660c
https://doi.org/10.1038/s41467-023-44611-2
https://findresearcher.sdu.dk/ws/files/253737829/s41467-023-44611-2.pdf

المؤلفون: Yoon, Jihoon G., Lee, Seungbok, Cho, Jaeso, Kim, Narae, Kim, Sheehyun, Kim, Man Jin, Kim, Soo Yeon, Moon, Jangsup, Chae, Jong-Hee

المصدر: European Journal of Human Genetics ; volume 32, issue 5, page 584-587 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/s41431-024-01542-w
https://www.nature.com/articles/s41431-024-01542-w.pdf
https://www.nature.com/articles/s41431-024-01542-w

المؤلفون: Kim, Hwa Young, Ko, Jung Min, Song, Hyun Beom, Kim, Kyu Han, Chae, Jong Hee, Kim, Man Jin, Seong, Moon-Woo

المساهمون: Chae, Jong Hee, Seong, Moon-Woo

Relation: European Journal of Human Genetics, Vol.30 No.SUPPL 1, pp.166-167; https://hdl.handle.net/10371/183687; 000779367700439; 161326

الاتاحة: https://hdl.handle.net/10371/183687

المؤلفون: Yu, Han, Kim, Woojoong, Park, David K., Phi, Ji Hoon, Lim, Byung Chan, Chae, Jong‐Hee, Kim, Seung‐Ki, Kim, Ki Joong, Provenzano, Frank A., Khodagholy, Dion, Gelinas, Jennifer N.

المساهمون: National Institutes of Health, National Science Foundation

المصدر: Epilepsia ; volume 65, issue 1, page 190-203 ; ISSN 0013-9580 1528-1167

الاتاحة: http://dx.doi.org/10.1111/epi.17810
https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.17810

المؤلفون: Cho, Jaeso, Lee, Jiwon, Kim, Jihye, Lee, Hyunjoo, Kim, Min-Jee, Lee, Yun Jeong, Yum, Mi-Sun, Byun, Ji-Hye, Lee, Chong Guk, Lee, Young-Mock, Lee, Jeehun, Chae, Jong-Hee

المصدر: Frontiers in Neurology ; volume 14 ; ISSN 1664-2295

الاتاحة: http://dx.doi.org/10.3389/fneur.2023.1294028
https://www.frontiersin.org/articles/10.3389/fneur.2023.1294028/full

المؤلفون: Ko, Young Jun, Kim, Soo Yeon, Lee, Seungbok, Yoon, Jihoon G., Kim, Man Jin, Jun, Hyeji, Kim, Hunmin, Chae, Jong-Hee, Kim, Ki Joong, Kim, Kwangsoo, Lim, Byung Chan

المصدر: Frontiers in Neurology ; volume 14 ; ISSN 1664-2295

الاتاحة: http://dx.doi.org/10.3389/fneur.2023.1218706
https://www.frontiersin.org/articles/10.3389/fneur.2023.1218706/full

المؤلفون: Chin, Hyungjin, Cho, Jaeso, Kim, Woo Joong, Kim, Soo Yeon, Lim, Byung Chan, Kim, Ki Joong, Chae, Jong Hee

المساهمون: Research of Korea Centers for Disease Control and Prevention

المصدر: Child Neurology Open ; volume 10 ; ISSN 2329-048X 2329-048X

الاتاحة: http://dx.doi.org/10.1177/2329048x231210421
http://journals.sagepub.com/doi/pdf/10.1177/2329048X231210421
http://journals.sagepub.com/doi/full-xml/10.1177/2329048X231210421

المؤلفون: Johannesen, Katrine M, Gardella, Elena, Linnankivi, Tarja, Courage, Carolina, Martin, Anne Saint, Lehesjoki, Anna‐Elina, Mignot, Cyril, Afenjar, Alexandra, Lesca, Gaetan, Abi‐Warde, Marie‐Thérèse, Chelly, Jamel, Piton, Amélie, Merritt, J Lawrence, Rodan, Lance H, Tan, Wen‐Hann, Bird, Lynne M, Nespeca, Mark, Gleeson, Joseph G, Yoo, Yongjin, Choi, Murim, Chae, Jong‐Hee, Czapansky‐Beilman, Desiree, Reichert, Sara Chadwick, Pendziwiat, Manuela, Verhoeven, Judith S, Schelhaas, Helenius J, Devinsky, Orrin, Christensen, Jakob, Specchio, Nicola, Trivisano, Marina, Weber, Yvonne G, Nava, Caroline, Keren, Boris, Doummar, Diane, Schaefer, Elise, Hopkins, Sarah, Dubbs, Holly, Shaw, Jessica E, Pisani, Laura, Myers, Candace T, Tang, Sha, Tang, Shan, Pal, Deb K, Millichap, John J, Carvill, Gemma L, Helbig, Kathrine L, Mecarelli, Oriano, Striano, Pasquale, Helbig, Ingo, Rubboli, Guido, Mefford, Heather C, Møller, Rikke S

المصدر: Epilepsia. 59(2)

مصطلحات موضوعية: Behavioral and Social Science, Neurodegenerative, Neurosciences, Genetics, Epilepsy, Clinical Research, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Adult, Anticonvulsants, Ataxia, Child, Child, Preschool, Cohort Studies, Electroencephalography, Epilepsies, Myoclonic, Epilepsies, Partial, Epilepsy, Generalized, Female, GABA Plasma Membrane Transport Proteins, Genetic Association Studies, Humans, Intellectual Disability, Language Development Disorders, Male, Mutation, Mutation, Missense, Neurodevelopmental Disorders, Phenotype, Treatment Outcome, Valproic Acid, Young Adult, epilepsy, epilepsy genetics, MAE, SLC6A1, MAE, SLC6A1, Clinical Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2q37p21v

المؤلفون: Victor, Ronald G, Sweeney, H Lee, Finkel, Richard, McDonald, Craig M, Byrne, Barry, Eagle, Michelle, Goemans, Nathalie, Vandenborne, Krista, Dubrovsky, Alberto L, Topaloglu, Haluk, Miceli, M Carrie, Furlong, Pat, Landry, John, Elashoff, Robert, Cox, David, Abdel-Hamid, Hoda, Apkon, Susan, Barohn, Richard, Belousova, Elena, Bertini, Enrico, Brandsema, John, Bruno, Claudio, Burnette, William, Butterfield, Russell, Campbell, Craig, Carlo, Jose, Chae, Jong-Hee, Chandratre, Saleel, Comi, Giacomo, Connolly, Anne, De Groot, Imelda, Deconinck, Nicolas, Dooley, Joseph, Dubrovsky, Alberto, Durigneux, Julien, Finanger, Erika, Frank, L Matthew, Harper, Amy, Hattori, Ayako, Herguner, Ozlem, Iannaccone, Susan, Janas, Joanne, Jong, Yuh-Jyh, Kirschner, JanBerd, Komaki, Hirofumi, Kuntz, Nancy, Lee, Wang-Tso, Leung, Edward, Mah, Jean, Mathews, Katherine, McDonald, Craig, Mercuri, Eugenio, McMillan, Hugh, Mueller-Felber, Wolfgang, de Munain, Adolfo Lopez, Nakamura, Akinori, Niks, Erik, Ogata, Katsuhisa, Pascual, Samuel, Pegoraro, Elena, Pereon, Yann, Renfroe, Ben, Sanka, Ratna Bhavaraju, Schallner, Jens, Schara, Ulrike, Selby, Kathryn, Sendra, Isabel Illa, Servais, Laurent, Smith, Edward, Sparks, Susan, Victor, Ron, Vilchez, Juan Jose, Wicklund, Matthew, Wilichoswki, Ekkehard, Wong, Brenda

المصدر: Neurology. 89(17)

مصطلحات موضوعية: Pediatric, Clinical Research, Duchenne/ Becker Muscular Dystrophy, Clinical Trials and Supportive Activities, Muscular Dystrophy, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Rare Diseases, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Musculoskeletal, Adolescent, Area Under Curve, Child, Dose-Response Relationship, Drug, Double-Blind Method, Follow-Up Studies, Glucocorticoids, Heart Rate, Humans, International Cooperation, Male, Muscular Dystrophy, Duchenne, Quality of Life, Respiratory Function Tests, Tadalafil, Treatment Outcome, Vasodilator Agents, Ventricular Function, Left, Walking, Tadalafil DMD Study Group, Clinical Sciences, Neurosciences, Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4kh2367q

المؤلفون: Han, Ji Yeon, Kim, Soo Yeon, Kim, Hunmin, Hwang, Hee, Choi, Jieun, Chae, Jong-Hee, Kim, Ki Joong, Cheon, Jung-Eun, Lim, Byung Chan

المساهمون: Chae, Jong-Hee, Kim, Ki Joong, Cheon, Jung-Eun, Lim, Byung Chan

Relation: Developmental Medicine and Child Neurology; https://hdl.handle.net/10371/183832; 000749499200001; 2-s2.0-85124030097; 161021

الاتاحة: https://hdl.handle.net/10371/183832
https://doi.org/10.1111/dmcn.15174

المؤلفون: Lee, Seungbok, Jang, Sesong, Kim, Jong-Il, Chae, Jong Hee, Kim, Ki Joong, Lim, Byung Chan

المساهمون: Kim, Jong-Il, Chae, Jong Hee, Kim, Ki Joong, Lim, Byung Chan

Relation: Frontiers in Neurology, Vol.13, p. 944905; https://hdl.handle.net/10371/185348; 000837094200001; 2-s2.0-85135470046; 168058

الاتاحة: https://hdl.handle.net/10371/185348

المؤلفون: Cho, Sung-Kuk, Gwon, Suhyun, Kim, Hyun Ah, Kim, Jiwon, Cho, Sung Yoo, Kim, Dong-Eog, Chae, Jong-Hee, Park, Dae Hwi, Hwang, Yu Kyeong

المساهمون: Chae, Jong-Hee

Relation: International Journal of Stem Cells, Vol.15 No.1, pp.1-13; https://hdl.handle.net/10371/184044; 000763696000001; 2-s2.0-85127860436; 162210

الاتاحة: https://hdl.handle.net/10371/184044

المؤلفون: Lee, Seungbok, Eum, Juneyong, Park, Soojin, Ki, Seoyoung, Hwang, Byung Joon, Kee, Yun, Chae, Jong Hee

المساهمون: Chae, Jong Hee

Relation: Neuromuscular Disorders, Vol.32 No.2, pp.176-184; https://hdl.handle.net/10371/184048; 2-s2.0-85124462900; 160928

الاتاحة: https://hdl.handle.net/10371/184048

المؤلفون: Choi, Jieun, Choi, Sun Ah, Kim, Soo Yeon, Kim, Hunmin, Lim, Byung Chan, Hwang, Hee, Chae, Jong Hee, Kim, Ki Joong, Oh, Sohee, Shin, Jeon-Soo

المساهمون: Choi, Jieun, Chae, Jong Hee, Kim, Ki Joong

مصطلحات موضوعية: Epilepsy, Interleukin-10, Seizures, febrile, Tumor necrosis factor-alpha, Variants

Relation: Annals of Child Neurology, Vol.27 No.2, pp.38-45; https://hdl.handle.net/10371/190549; 2-s2.0-85109902066; 174870

الاتاحة: https://hdl.handle.net/10371/190549
https://doi.org/10.26815/acn.2019.00038

المؤلفون: Lee, Seungbok, Jang, Se Song, Park, Soojin, Yoon, Jihoon G., Kim, Soo Yeon, Lim, Byung Chan, Chae, Jong Hee

المساهمون: Lim, Byung Chan, Chae, Jong Hee

Relation: Frontiers in Pediatrics, Vol.10, p. 960450; https://hdl.handle.net/10371/184960; 000837123800001; 2-s2.0-85135478738; 168063

الاتاحة: https://hdl.handle.net/10371/184960
https://doi.org/10.3389/fped.2022.960450

المؤلفون: Kim, Soo Yeon, Ko, Saebom, Kang, Hyunook, Kim, Man Jin, Moon, Jangsup, Lim, Byung Chan, Kim, Ki Joong, Choi, Murim, Choi, Hee-Jung, Chae, Jong-Hee

المساهمون: Choi, Hee-Jung, Chae, Jong-Hee

Relation: Orphanet Journal of Rare Diseases, Vol.17 No.1, p. 306; https://hdl.handle.net/10371/185158; 000836273500001; 2-s2.0-85135267553; 168044

الاتاحة: https://hdl.handle.net/10371/185158
https://doi.org/10.1186/s13023-022-02457-9